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Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome


Schinzel, Albert (1977). Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Human Genetics, 37(1):17-26.

Abstract

Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the lang arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.

Abstract

Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the lang arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Septal Defect, Chromosome Aberration, Ventricular Septal Defect, Meningocele, Balance Translocation
Language:English
Date:January 1977
Deposited On:25 Oct 2023 06:58
Last Modified:30 Mar 2024 04:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00293767
PubMed ID:881192
Other Identification Number:Corpus ID: 2348136